For Non-Scientists

Cardiomyopathy is the disease of the heart muscle leading to deterioration of the function of heart. There are different types of cardiomyopathies - dilated cardiomyopathy (DCM) in which the heart is enlarged, hypertrophic cardiomyopathy (HCM) in which the heart muscle is thickened leading to obstruction to blood flow; and are major causes of heart failure, sudden cardiac death, arrhythmias and need for a heart transplant.  Genetic defects in the heart proteins have been linked to different forms of cardiomyopathy. We have recently demonstrated that not all cardiomyopathies are due to defects in heart proteins; for hypertrophic cardiomyopathy (HCM) - the y-2 subunit of the AMP-activated protein kinase and for dilated cardiomyopathy (DCM) - abnormalities in calcium-handling proteins. Based on the functional analysis of the aberrant proteins of the heart, we postulate that there is no unifying defect in contractility underlying HCM.

Coronary Artery Disease (CAD) is another common type of heart disease leading to death. It is caused when the arteries supplying blood to the heart muscles are narrowed or blocked due to plaque (atheroma) formation inside the coronary arteries. Inadequate supply of oxygen to the heart muscle leads to cell death and usually presents as chest pain (angina). Rupture of the plaque may lead to a sudden heart attack (myocardial infarction). PROCARDIS consortium, over the past seven years has collected a large number of families with early myocardial infarction. The study exploits advances in complex trait genetics and functional genomics to discover novel susceptibility genes for coronary artery disease (CAD). PROCARDIS is incorporating a definitive genome-wide association analysis and measurement of novel intermediate phenotypes to yield biomarkers for CAD risk and quantitative traits for genetic analysis.

 

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